Research By Disease – CheckOrphan

Disease: Microphthalmia- syndromic 1

NAA10 polyadenylation signal variants cause syndromic microphthalmia
3D facial morphometry in Italian patients affected by Aicardi syndrome
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
A central role for regulated protein stability in the control of TFE3 and MITF by nutrients
A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)
A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
A Review of Human Ocular RNA Virus Infections Excluding Coronavirus, Human T-Cell Lymphotropic Virus, and Arboviruses
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy
A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome
Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia
Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst
BCOR variants are associated with X-linked recessive partial epilepsy
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
Broad Spectrum epidemiological contribution of cannabis and other substances to the teratological profile of northern New South Wales: geospatial and causal inference analysis
Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome
Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
Congenital high airway obstruction syndrome (CHAOS): a case report
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders
Cryptophthalmos: associated syndromes and genetic disorders
Dandy-Walker Variant Associated with Bilateral Congenital Cataract
Demographics and histopathological characteristics of enucleated microphthalmic globes
Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series
Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease
Encephalocraniocutaneous Lipomatosis Associated with Orbital Cyst: A Variant or New Entity?
Ethanol Causes Cell Death and Neuronal Differentiation Defect During Initial Neurogenesis of the Neural Retina by Disrupting Calcium Signaling in Human Retinal Organoids
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases
Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia
Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders
Hallermann-Streiff Syndrome and Psychosis: A Case Report
Hallermann-Streiff syndrome diagnosed in the seventh decade of life
Hemifacial Microsomia Review: Recent Advancements in Understanding the Disease
Identification of a novel microdeletion causative of Nance-Horan syndrome
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity
Induction of Immune Surveillance of the Dysmorphogenic Lens
Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles
Lens-Sparing Surgery for Retrolental Stalk in Persistent Fetal Vasculature
Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature
Lenz micropthalmia syndrome with associated orbital cysts
Maternal cytomegalovirus infection and delayed language development in children at 3 years of age-a nested case-control study in a large population-based pregnancy cohort
Maternal SARS-CoV-2 infection during pregnancy: possible impact on the infant
Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu
MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61
Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
Multilevel Stabilization Screws Prevent Proximal Junctional Failure and Kyphosis in Adult Spinal Deformity Surgery: A Comparative Cohort Study
Multiple pancreatic neuroendocrine tumors in OFCD syndrome caused by somatic BCOR mosaicism
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report
Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome
Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner
Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome
Ocular Phenotype of Peters-Plus Syndrome
Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report
Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report
Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report
Orthopaedic manifestations in a case of Lenz microphthalmia syndrome
Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity
Patterns of co-occurring birth defects in children with anotia and microtia
Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature
PHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy
Posterior Microphthalmos Pigmentary Retinopathy Syndrome with Angle-Closure Glaucoma: A Case Report
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome
Prevalence of complications in eyes with nanophthalmos or microphthalmos: protocol for a systematic review and meta-analysis
Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitfmi/+ Mice
Ptosis Correction
Rapid resolution of severe exudation in uveal effusion syndrome with anti-vascular endothelial growth factor alone in a case of bilateral nanophthalmos: a case report
Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology
Relating SMCHD1 structure to its function in epigenetic silencing
Renal involvement and Strømme syndrome
Retinal Manifestations of Walker-Warburg Syndrome in Two Siblings with RXYLT1 Mutations
Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases
SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization
Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service
The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study
The phenotypic spectrum associated with OTX2 mutations in humans
Three Novel Mutations of Microphthalmos Identified in Two Chinese Families
Total retinal detachment and contractile movement of the disc in eyes with morning glory syndrome